Tae-Beom Ahn1, Sun Ju Chung2, Seong-Beom Koh3, Hyun Young Park4, Jin Whan Cho5, Jae-Hyeok Lee6, Jin Yong Hong7, Do-Young Kwon8, Chaewon Shin1, Jee-Young Lee9, Woong-Woo Lee10, Beomseok Jeon11. 1. Department of Neurology, Kyung Hee University College of Medicine, Seoul, South Korea. 2. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. 3. Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, South Korea. 4. Department of Neurology, Wonkang University College of Medicine, Iksan, South Korea. 5. Department of Neurology and Neuroscience Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. 6. Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University, Yangsan, South Korea. 7. Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea. 8. Department of Neurology, Korea University Ansan Hospital, Korea University College of Medicine, Ansan, South Korea. 9. Department of Neurology, SMG-SNU Boramae Medical Center & Seoul National University College of Medicine, Seoul, South Korea. 10. Department of Neurology, Nowon Eulji Medical Center, Eulji University, Seoul, South Korea. 11. Department of Neurology, Seoul National University College of Medicine, Movement Disorder Center, Seoul National University Hospital, South Korea. Electronic address: brain@snu.ac.kr.
Abstract
INTRODUCTION: Dopa-responsive dystonia (DRD) related to GCH1 mutation is a biochemical disorder. DRD is majorly characterized by dystonia and/or parkinsonism. Although clinical disorders show a dramatic positive response to levodopa, there are controversies over the residual signs following treatment. This study was designed to investigate the residual signs following levodopa treatment in Korean DRD patients with GCH1 mutation. METHODS: A structured questionnaire was prepared to obtain information about demographic factors, clinical characteristics, genetic data, neuroimaging data and residual signs following levodopa treatment of the patients, and was sent to movement specialists at tertiary hospitals. The data collected from the returned forms were analyzed using appropriate statistical methods such as Student's t-test, Mann-Whitney U test, Chi-square test or Fisher's exact test. RESULTS: Thirty-nine DRD Korean patients with GCH1 mutation were recruited. One patient was presented with only parkinsonism. Dystonia was completely resolved in 32 out of 38 patients following treatment, while parkinsonism improved without residual signs in 8 out of 9 patients. The frequency of the residual signs in Korean patients (15.8% for dystonia and 11.1% for parkinsonism) is similar to that observed in Chinese patients, but lower in Western patients. Furthermore, these signs were more frequent in those patients with a delay in their diagnosis, and those who were relatively older at the time of diagnosis. CONCLUSIONS: Ethnic differences, age at diagnosis, and a temporal gap between the onset and diagnosis in Korean patients may influence the remaining neurologic abnormalities of DRD.
INTRODUCTION:Dopa-responsive dystonia (DRD) related to GCH1 mutation is a biochemical disorder. DRD is majorly characterized by dystonia and/or parkinsonism. Although clinical disorders show a dramatic positive response to levodopa, there are controversies over the residual signs following treatment. This study was designed to investigate the residual signs following levodopa treatment in Korean DRDpatients with GCH1 mutation. METHODS: A structured questionnaire was prepared to obtain information about demographic factors, clinical characteristics, genetic data, neuroimaging data and residual signs following levodopa treatment of the patients, and was sent to movement specialists at tertiary hospitals. The data collected from the returned forms were analyzed using appropriate statistical methods such as Student's t-test, Mann-Whitney U test, Chi-square test or Fisher's exact test. RESULTS: Thirty-nine DRD Korean patients with GCH1 mutation were recruited. One patient was presented with only parkinsonism. Dystonia was completely resolved in 32 out of 38 patients following treatment, while parkinsonism improved without residual signs in 8 out of 9 patients. The frequency of the residual signs in Korean patients (15.8% for dystonia and 11.1% for parkinsonism) is similar to that observed in Chinese patients, but lower in Western patients. Furthermore, these signs were more frequent in those patients with a delay in their diagnosis, and those who were relatively older at the time of diagnosis. CONCLUSIONS: Ethnic differences, age at diagnosis, and a temporal gap between the onset and diagnosis in Korean patients may influence the remaining neurologic abnormalities of DRD.